By BRIAN LANDMAN, ZACHARY SPAIN
Published September 16, 2004
The final autopsy on Florida State women's basketball player Ronalda Pierce supports the preliminary findings that a genetic disorder led to a fatal aortic rupture in June. She was 19.
"The findings favor a diagnosis of Marfan syndrome," wrote Dr. Stephen Sarbeck, the medical examiner who handled the case.
The report, obtained Wednesday through a public-records request by the Times, pointed out that Pierce had some of the unseen indicators: An umbrella-like ballooning of the mitral valve of the heart and, perhaps most telling although not 100 percent conclusive, the mutation of the gene (Fibrillin-1) that's known to cause Marfan syndrome.
Dr. Alan Braverman, a cardiologist and professor at Washington University's School of Medicine who's director of its Marfan syndrome clinic, said the DNA analysis also should prompt Pierce's immediate family to be genetically tested.
"It's one more piece of the puzzle," he said of a DNA test, "and it can highlight how this diagnosis can be elusive in many individuals because the clinical features may not be so obvious."
Sarbeck wrote that Pierce didn't have a significantly flattened or sunken breast plate, for example, one of the more obvious signs of the connective tissue disorder that affects about one in 5,000 Americans of all races and ethnicities.
NOTE: For information about Marfan syndrome, call the National Marfan Foundation toll free at 1-800-862-7326 or visit www.marfan.org
